I truly believe that being able to have this medication has saved Esme’s life, and has allowed her to develop like most normal healthy children, both physically and mentally

Diagnosed with the ultra-rare, life threatening blood disease, atypical haemolytic uraemic syndrome (aHUS) at nine-months of age, Esme, now 6, Perth, was privileged to be granted compassionate access to the only treatment that could ultimately save her life, Soliris (eculizumab) in May 2010, aged one.

This is Esme’s story.

Travelling around Singapore with her family in November, 2009, then nine-month old Esme began experiencing an upper respiratory infection. This prompted her mother, Yee-Tching to take her to the Children’s Hospital, where she was diagnosed with bronchiolitis.

While in hospital, doctors noticed Esme’s iron levels were low and advised she undergo blood tests after returning home with her family.

After arriving in Perth a few days later, Yee-Tching took Esme to the Princess Margaret Hospital for Children to undergo what she thought, would be a routine blood test.

Following the tests, doctors identified something much more sinister than low iron levels.

After questinoning Yee-Tching in detail about her child’s health, which she explained was “fairly healthy prior to the bronchiolitis,” doctors diagnosed Esme with aHUS.

“I have a background in science, yet I had never heard of aHUS. We were completely unaware of the disease,” said Yee-Tching.

“Although Esme’s doctor had seen HUS, he had never seen an atypical case.

“It was a mystery and he had to contact colleagues internationally to confirm the diagnosis,” Yee-Tching said.

The diagnosis came as a huge shock to Esme’s family.

“It was a shock for us to go from leading a normal life, to Esme being diagnosed with this ultra-rare blood disease.

“I had no idea how long she would have to spend in hospital, which ended up being more than three weeks,” said Yee-Tching.

“Following her diagnosis, Esme spent a full week in hospital before being released. She was only out for two days before we had to return to hospital, where she then spent the next three weeks.”

On Christmas Eve, 2009, around three weeks after returning home, Esme visited hospital for a routine blood transfusion, after which she experienced a “Code Blue” episode, whereby she stopped breathing.

At this point in time, Yee-Tching had begun to notice that Esme wasn’t growing as quickly as a normal child of her age. The aHUS had also delayed other aspects of her development, for she was often exhausted and weakened by her disease.

Esme’s renal specialist had heard of the treatment Soliris (eculizumab) and approached the manufacturer to see whether Esme could be included in a clinical trial to access the treatment on compassionate grounds.

“All we knew at the time, was that Esme had been given access to an experimental treatment and we had to wait to see if it would work,” Yee-Tching said.

“Before accessing Soliris, we were never sure of what Esme’s future looked like. It was very uncertain as to what each day held for her.

“Soliris has now become routine for all of us now. Esme heads into hospital once a fortnight to receive her Soliris treatment. Otherwise, she’s just a normal, happy six-year-old.”

According to Yee-Tching, Soliris has significantly transformed Esme’s life, allowing her to attend school and pursue a relatively normal life.

“Within two-to-three months of receiving Soliris, Esme started to grow again, and to behave more like a baby of her age.”

On December 1, 2014, Soliris was subsidised on the Pharmaceutical Benefits Scheme (PBS), with the Government earmarking $63 million over the ensuing four years, to fund Soliris for certain aHUS patients who met the stipulated treatment access criteria for 12 months.

Those whose 12-month access to Soliris has either recently ceased, or is about to cease, will require regular, bi-weekly, weekly or fortnightly blood testing and monitoring. Together with aHUS patients who do not qualify for access to Soliris, they must experience another, potentially life-threatening aHUS flare before proving eligible for ongoing, or new treatment access.

In the interim, the Government recently announced the formation of an ‘Expert Reference Group’ (ERG) on the PBS website, to assess applications for continuation or re-initiation of Soliris within 72 hours of receipt, upon correct and complete provision of information.

On Wednesday, November 25, 2015, Esme received her last subsidised dose of Soliris.

“Esme has done so well on Soliris, so her doctor is interested to see whether her disease has calmed down now that she is no longer accessing the treatment.

“Having no access to Soliris will also give her veins a break, which have been traumatised by the catheter and infusions,” Yee-T’ching said.

Yet Yee-T’ching is concerned for the greater aHUS community whose members, without access to Soliris, could quickly regress into end stage renal failure, and even death, due to a decision made by ERG members who are not familiar with individual patient cases.

“I support every aHUS patient whose kidneys are failing, or damaged. Should their aHUS flare, they will be terrified.

“Their doctors should be responsible for determining whether they should receive continuing access to Soliris, not undisclosed members of the ERG,” said Yee T’ching.

“If Esme falls sick again, it would be a stressful situation, should she not be granted immediate access to Soliris.

“That decision would lead to her rehospitalisation and we’d be left in the dark as to how long she would have to stay there,” Yee T’ching said.

“It’s impossible to predict how Esme’s kidneys would react to a lack of access to Soliris, and it would be incredibly stressful, knowing this clinically proven treatment is available, sitting on hospital pharmacy shelves, but is inaccessible due to cost.”